Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China.
Br J Ophthalmol. 2023 Aug;107(8):1216-1222. doi: 10.1136/bjophthalmol-2021-319756. Epub 2022 Jan 11.
Association of variants with peripapillary retinal nerve fibre layer (p-RNFL) thickness had been reported in adults. This study aimed to investigate these associations in children, with further explorations by spatial, age and sex stratifications.
2878 school children aged between 6 and 9 years were enrolled from the Hong Kong Children Eye Study. Three single-nucleotide polymorphisms (SNPs) at the locus were genotyped. The association of each SNP with p-RNFL thickness (including global and sectoral thickness) were evaluated using multiple linear regression.
SNPs rs33912345 (p=7.7×10) and rs10483727 (p=0.0013) showed significant associations with temporal-inferior p-RNFL thickness. The C allele of rs33912345 was associated with a thinner temporal-inferior p-RNFL by an average of 2.44 µm, while rs10483727-T was associated with a thinner temporal-inferior p-RNFL by 2.32 µm. The association with temporal-inferior p-RNFL was the strongest in the 8-9 year-old group for rs33912345 (p=5.2×10) and rs10483727 (p=3.3×10). Both SNPs were significantly associated with temporal-inferior p-RNFL thickness in boys (p<0.0017), but not in girls (p>0.05). In contrast, rs12436579-C (β=1.66; p=0.0059), but not rs33912345-C (β=1.31; p=0.052) or rs10483727-T (β=1.19; p=0.078), was nominally associated with a thicker nasal-inferior p-RNFL.
Both rs33912345 and rs10483727 at were associated with p-RNFL thickness in children, especially at the temporal-inferior sector, with age-dependent and sex-specific effects. SNP rs12436579 was associated with nasal-inferior p-RNFL thickness. Our findings suggested a role of in RNFL variation during neural retina development in childhood.
已有研究报道，在成年人中，变体与视盘周围视网膜神经纤维层（p-RNFL）厚度之间存在关联。本研究旨在探讨这些关联在儿童中的存在情况，并进一步通过空间、年龄和性别分层进行探索。
从香港儿童眼研究中招募了 2878 名年龄在 6 至 9 岁之间的学龄儿童。对 基因座的 3 个单核苷酸多态性（SNP）进行基因分型。使用多元线性回归评估每个 SNP 与 p-RNFL 厚度（包括全局和扇形厚度）之间的关联。
SNP rs33912345（p=7.7×10）和 rs10483727（p=0.0013）与颞下象限 p-RNFL 厚度呈显著相关。rs33912345 的 C 等位基因与颞下象限 p-RNFL 厚度平均变薄 2.44 µm，而 rs10483727-T 与颞下象限 p-RNFL 厚度变薄 2.32 µm。rs33912345 和 rs10483727 与颞下象限 p-RNFL 的关联在 8-9 岁年龄组中最强（rs33912345，p=5.2×10；rs10483727，p=3.3×10）。这两个 SNP 均与男孩的颞下象限 p-RNFL 厚度显著相关（p<0.0017），但与女孩无关（p>0.05）。相比之下，rs12436579-C（β=1.66；p=0.0059），而不是 rs33912345-C（β=1.31；p=0.052）或 rs10483727-T（β=1.19；p=0.078），与鼻下象限 p-RNFL 增厚呈显著相关。
rs33912345 和 rs10483727 均与儿童的 p-RNFL 厚度相关，尤其是颞下象限，具有年龄依赖性和性别特异性效应。SNP rs12436579 与鼻下象限 p-RNFL 厚度相关。我们的研究结果表明，在儿童神经视网膜发育过程中， 基因可能在 RNFL 变异中发挥作用。
